This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10. [provided by RefSeq, Jul 2008]
Function
ATP binding; microtubule binding; microtubule motor activity; motor activity; protein binding
Synonyms
KIF5A; kinesin family member 5A; NKHC; MY050; SPG10; D12S1889; kinesin heavy chain isoform 5A; KIF5A variant protein; neuronal kinesin heavy chain; kinesin heavy chain neuron-specific 1; kinesin, heavy chain, neuron-specific
Citations
Publication ()
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References
Wide phenotypic spectrum of axonal peripheral neuropathy patients with KIF5A mutations
JOURNAL OF THE NEUROLOGICAL SCIENCES
Authors: Nam, D. E.; Woo, J. H.; Kim, M. J.; Shin, S. Y.; Choi, B. O.; Chung, K. W.
COA
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